Canonical Allele Identifier: CA2702134425

Gene: VHL

Linked Data

• dbSNP Id: rs2125131021

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150012A>C , CM000665.2:g.10150012A>C	GRCh38
NC_000003.11:g.10191696A>C , CM000665.1:g.10191696A>C	GRCh37
NC_000003.10:g.10166696A>C	NCBI36
NG_008212.3:g.13378A>C , LRG_322:g.13378A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*366A>C	ENSP00000512434.1:n.*366A>C
ENST00000696143.1:c.825A>C	ENSP00000512435.1:n.825A>C
ENST00000696153.1:c.*47A>C	ENSP00000512444.1:n.*47A>C
ENST00000256474.3:c.*47A>C MANE Select	ENSP00000256474.3:n.*47A>C
ENST00000256474.2:c.*47A>C	ENSP00000256474.2:n.*47A>C
ENST00000345392.2:c.*47A>C	ENSP00000344757.2:n.*47A>C
ENST00000477538.1:n.825A>C
NM_000551.3:c.*47A>C , LRG_322t1:c.*47A>C	NP_000542.1:n.*47A>C
NM_198156.2:c.*47A>C	NP_937799.1:n.*47A>C
NM_001354723.1:c.*243A>C	NP_001341652.1:n.*243A>C
NM_000551.4:c.*47A>C MANE Select	NP_000542.1:n.*47A>C
NM_001354723.2:c.*243A>C	NP_001341652.1:n.*243A>C
NM_198156.3:c.*47A>C	NP_937799.1:n.*47A>C